Annotation Detail
Information
- Associated Genes
- NOS3
- Associated Variants
-
NOS3 p.Asp298Glu (p.D298E)
(
ENST00000297494.8,
ENST00000461406.5,
ENST00000467517.1,
ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- ABLEPHARON-MACROSTOMIA SYNDROME
- Source Database
- DisGeNET
- Description
- We tested the hypothesis that haplotypes, as determined by tagSNPs, in NOS3 would be differentially represented in individuals with and without AMS sampled at the Janai Purnima Festival at Lake Gosain Kunda, Nepal, at 4380 m. Seven SNPs were tested, and a highly significant association (p = 0.004) was found for genotypes of the commonly studied missense polymorphism Glu298Asp (rs 1799983; G/T transversion at base 894).
- Pubmed
- 19775216
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2009
Drugs